Learning about the known genes is useful but, in most cases, it is not going to make a major impact on a person's health. And, considering the expense, it is certainly not going to justify implementing whole genome sequencing as a standard part of our medical care -- at least not for now. But most of the current discussion on the benefits of genome sequencing has been one-dimensional, focusing on the significance of identifying these known genes and risk factors. Yet what excites me about this project is not the known genes, but the incredible potential of a person's DNA sequence having a major impact on his health and longevity in the future, in ways that we cannot even predict.
Consider, for example, common conditions that clearly have a genetic component but can't be pinned to a single gene. These include asthma, rheumatoid arthritis, lupus, cancer, hypertension, diabetes, obesity, metabolic syndrome, kidney failure, anemia, cancer, depression, schizophrenia, obesity, heart attacks, osteoarthritis and many others. In fact, conditions like these probably cover the majority of all doctors' visits (excluding infection and accidents). These are the "unknown unknowns," where combinations of genes and environmental factors come to play. Perhaps we will be able to use our genome sequence to prevent these diseases by targeting the mutation, or lessen the severity of the condition, or modify outside factors that impact them.
Impossible dreams? Sure, but so was obtaining the complete human genome sequence 1988. There is no question that genome research is moving so rapidly that we don't even have a vision of where it will be in 10 years. But I'm confident that the medical implications will strengthen as research continues and more complete genomes are compiled. I am pleased to be an early contributor.
- More Here
Consider, for example, common conditions that clearly have a genetic component but can't be pinned to a single gene. These include asthma, rheumatoid arthritis, lupus, cancer, hypertension, diabetes, obesity, metabolic syndrome, kidney failure, anemia, cancer, depression, schizophrenia, obesity, heart attacks, osteoarthritis and many others. In fact, conditions like these probably cover the majority of all doctors' visits (excluding infection and accidents). These are the "unknown unknowns," where combinations of genes and environmental factors come to play. Perhaps we will be able to use our genome sequence to prevent these diseases by targeting the mutation, or lessen the severity of the condition, or modify outside factors that impact them.
- What if you knew that would get diabetes if you were overweight, but you also knew that you could prevent this obesity by modifying a gene in your liver?
- What if you knew that your daughter had the potential to be a math genius? Would you help her develop her potential?
- What if your doctor could treat your hypertension with an individualized combination of drugs that had no side effects for you?
- What if you learned you have a risk of schizophrenia, but could prevent it by a treatment designed target the DNA sequence and stop its progression?
- What if you knew what biochemical subtype of depression you had, so you could treat it with the correct drug?
Impossible dreams? Sure, but so was obtaining the complete human genome sequence 1988. There is no question that genome research is moving so rapidly that we don't even have a vision of where it will be in 10 years. But I'm confident that the medical implications will strengthen as research continues and more complete genomes are compiled. I am pleased to be an early contributor.
- More Here
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